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A family with Townes-Brocks syndrome with congenital hypothyroidism and a novel mutation of the SALL1 gene
Townes-Brocks syndrome (TBS) is a rare autosomal dominant congenital disorder caused by mutations in the SALL1 gene. Its signs and symptoms overlap with other genetic syndromes, including VACTERL association, Pendred syndrome, Baller-Gerold syndrome, and cat eye syndrome. Structural vertebral abnorm...
| Autores principales: | , , , |
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| Formato: | Texto |
| Lenguaje: | English |
| Publicado: |
The Korean Pediatric Society
2010
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3021728/ https://www.ncbi.nlm.nih.gov/pubmed/21253317 http://dx.doi.org/10.3345/kjp.2010.53.12.1018 |